Incidental Mutation 'R9316:Gcm2'
ID 705890
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R9316 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41259328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 47 (R47H)
Ref Sequence ENSEMBL: ENSMUSP00000021791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000225271]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021791
AA Change: R47H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: R47H

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225271
AA Change: R47H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 91% (32/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice lack parathyroid glands and exhibit hypocalcemia, hypophosphatemia, a mild abnormal bone phenotype, and partial perinatal lethality. Hypoparathyroidism is observed although parathyroid hormone serum levels are normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 C A 2: 158,477,274 (GRCm39) N408K probably benign Het
AI661453 A G 17: 47,747,832 (GRCm39) I35V probably benign Het
Asb10 G T 5: 24,745,045 (GRCm39) N101K possibly damaging Het
Bpifa6 T C 2: 153,828,383 (GRCm39) V163A possibly damaging Het
Dmp1 G T 5: 104,357,767 (GRCm39) D36Y probably benign Het
Eef1d T A 15: 75,781,130 (GRCm39) probably benign Het
Gm7145 A G 1: 117,896,174 (GRCm39) N72S probably benign Het
Gpr45 T A 1: 43,071,534 (GRCm39) V59E probably damaging Het
Gucy1a1 T C 3: 82,016,250 (GRCm39) E246G possibly damaging Het
Hspa12a C T 19: 58,793,079 (GRCm39) E369K probably benign Het
Iho1 T C 9: 108,298,726 (GRCm39) T31A possibly damaging Het
Il6st T A 13: 112,639,349 (GRCm39) N652K possibly damaging Het
Kdm5a T A 6: 120,381,973 (GRCm39) D672E probably damaging Het
Klk6 T C 7: 43,477,912 (GRCm39) S95P probably benign Het
Lrrc51 C T 7: 101,562,351 (GRCm39) R169H probably damaging Het
Or14c41 T C 7: 86,235,134 (GRCm39) V217A probably benign Het
Or3a4 A T 11: 73,944,892 (GRCm39) I231N probably damaging Het
Pacsin1 A G 17: 27,924,707 (GRCm39) K186E possibly damaging Het
Pate3 C T 9: 35,557,374 (GRCm39) C94Y probably damaging Het
Pcdh18 G A 3: 49,709,089 (GRCm39) T742M probably damaging Het
Pogz T A 3: 94,784,659 (GRCm39) S779T probably damaging Het
Prep A T 10: 44,967,192 (GRCm39) K75M probably damaging Het
Qsox2 T G 2: 26,101,084 (GRCm39) K475T probably benign Het
Qsox2 T A 2: 26,101,085 (GRCm39) K475* probably null Het
Rfng A T 11: 120,674,863 (GRCm39) D42E unknown Het
Ripor2 C T 13: 24,905,719 (GRCm39) T955M probably benign Het
Ryr1 C T 7: 28,717,387 (GRCm39) E4554K unknown Het
Slco1a5 A T 6: 142,195,935 (GRCm39) L356H probably damaging Het
Tbc1d21 G A 9: 58,274,215 (GRCm39) A30V probably benign Het
Tmem161b C A 13: 84,430,855 (GRCm39) H158N possibly damaging Het
Tmem217 A G 17: 29,745,383 (GRCm39) F116L probably benign Het
Tnfrsf13c A G 15: 82,108,021 (GRCm39) I119T probably benign Het
Tpp2 G A 1: 44,017,604 (GRCm39) R736H probably damaging Het
Vmn2r75 T A 7: 85,797,313 (GRCm39) R833S possibly damaging Het
Zfp330 A G 8: 83,491,487 (GRCm39) S229P probably damaging Het
Other mutations in Gcm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Gcm2 APN 13 41,256,607 (GRCm39) missense probably damaging 1.00
IGL01476:Gcm2 APN 13 41,259,217 (GRCm39) missense probably damaging 1.00
IGL02034:Gcm2 APN 13 41,259,269 (GRCm39) missense probably damaging 1.00
IGL02186:Gcm2 APN 13 41,258,125 (GRCm39) missense possibly damaging 0.93
IGL02456:Gcm2 APN 13 41,256,477 (GRCm39) missense probably benign 0.01
IGL03142:Gcm2 APN 13 41,256,711 (GRCm39) missense probably benign 0.01
IGL03184:Gcm2 APN 13 41,258,888 (GRCm39) missense probably damaging 1.00
PIT4403001:Gcm2 UTSW 13 41,256,315 (GRCm39) missense probably benign 0.01
R0227:Gcm2 UTSW 13 41,259,332 (GRCm39) missense probably damaging 0.99
R1061:Gcm2 UTSW 13 41,259,347 (GRCm39) missense probably damaging 1.00
R1813:Gcm2 UTSW 13 41,259,367 (GRCm39) missense probably benign 0.19
R2057:Gcm2 UTSW 13 41,263,430 (GRCm39) start codon destroyed probably null 0.28
R2058:Gcm2 UTSW 13 41,263,430 (GRCm39) start codon destroyed probably null 0.28
R2059:Gcm2 UTSW 13 41,263,430 (GRCm39) start codon destroyed probably null 0.28
R2351:Gcm2 UTSW 13 41,257,094 (GRCm39) missense probably benign 0.02
R4653:Gcm2 UTSW 13 41,256,317 (GRCm39) missense probably benign 0.21
R4782:Gcm2 UTSW 13 41,256,970 (GRCm39) missense possibly damaging 0.66
R4799:Gcm2 UTSW 13 41,256,970 (GRCm39) missense possibly damaging 0.66
R5135:Gcm2 UTSW 13 41,256,435 (GRCm39) missense probably benign
R5162:Gcm2 UTSW 13 41,257,131 (GRCm39) missense probably benign 0.01
R5665:Gcm2 UTSW 13 41,263,387 (GRCm39) missense possibly damaging 0.73
R5756:Gcm2 UTSW 13 41,263,372 (GRCm39) missense probably damaging 1.00
R5771:Gcm2 UTSW 13 41,256,991 (GRCm39) missense probably benign 0.40
R5928:Gcm2 UTSW 13 41,256,874 (GRCm39) missense probably benign 0.00
R5977:Gcm2 UTSW 13 41,256,603 (GRCm39) missense probably damaging 0.99
R6394:Gcm2 UTSW 13 41,263,373 (GRCm39) missense probably damaging 1.00
R6578:Gcm2 UTSW 13 41,259,154 (GRCm39) missense probably damaging 1.00
R6798:Gcm2 UTSW 13 41,259,361 (GRCm39) missense probably damaging 1.00
R7088:Gcm2 UTSW 13 41,256,840 (GRCm39) missense probably damaging 0.98
R7413:Gcm2 UTSW 13 41,259,230 (GRCm39) missense probably damaging 1.00
R7456:Gcm2 UTSW 13 41,256,751 (GRCm39) missense probably benign 0.02
R8293:Gcm2 UTSW 13 41,256,646 (GRCm39) missense probably damaging 1.00
R8738:Gcm2 UTSW 13 41,258,096 (GRCm39) missense probably benign 0.41
R9087:Gcm2 UTSW 13 41,263,406 (GRCm39) missense
R9799:Gcm2 UTSW 13 41,258,924 (GRCm39) missense probably damaging 1.00
Z1088:Gcm2 UTSW 13 41,256,268 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTTTGTTGCTTCAGCCGG -3'
(R):5'- TGCAGCTGGAGATTGACATTGTATAC -3'

Sequencing Primer
(F):5'- TTGTCACAGATGGCTGGCCTC -3'
(R):5'- ATCTTCCAGGGCACAGAA -3'
Posted On 2022-03-25